新生儿聋病基因GJB2、SLC26A4、线粒体12SrRNA的分子流行病学研究

The Molecular Epidemiology Discussion of Newborn Deafness Pathogenic Screening

目的通过对新生儿进行聋病易感基因筛查,探讨新生儿中聋病易感基因的分子流行病学特点,为制定防聋治聋策略提供依据。方法以659例新生儿作为研究对象,在新生儿生后3d,采集点滴微量足跟血进行线粒体12SrRNA基因、GJB2基因、SLC26A4基因的聚合酶链扩增反应(PCR),通过酶切反应或直接测序方法对3种基因突变进行筛查。对耳聋基因突变的新生儿进行流行病学特点分析。结果 659例新生儿中GJB2基因235delC杂合突变7例,致病突变的携带率为1.06%;SLC26A4基因IVS7-2A>G杂合突变3例,致病突变的携带率为0.46%,3项基因总突变率1.52%;携带突变基因的新生儿男性占2.01%,女性占0.96%;满族新生儿携带率最高,为1.82%,汉族为1.57%。结论 659例新生儿中耳聋易感基因突变率为1.52%,有男性多于女性、满族多于汉族的趋势。在新生儿中开展聋病易感基因筛查,早期发现遗传性耳聋高危人群,是降低耳聋发病率。

Objective To discuss the report of newborn gene screening in order to find the feature of the epidemiologic of the pathogenic in Shenyang area.discuss the relationship of the genes mutations and related factors.provided a basis strategy for pre-deaf and treat-deaf.Methods 659 newborn babies accepted the gene screening.All newborns collected the blood in three days performed the polymerase chain reaction（PCR）for screening the mitochondrial 12SrRNA 1555G and GJB2 as well as SLC26A4 genes mutations.molecular epidemiology discussion of the newborn with genes mutations.Results For the GJB2 gene screening,7 were 235delC heterozygote,1.06% ;For the SLC26A4 gene screening,3 with the heterozygote of IVS7-2A〉G mutation was found,0.46%;Totally 1.52%of newborn carried the genes mutaion.2.01% male carried the genes mutation,0.96% female carried the genes mutation.1.82% Manchu ethic carried the genes mutation,1.57% Han carried mutation.Conclusion Totally 1.52%of newborn carried the genes mutation.We found the tendency is male has more carried mutation than female,Manchu has more carried mutation than Han.Newborn gene screening for the purpose of early diagnosis and discovery the prelingual or late-onset deafness or the high risk as well as the pathogenic carriers.This providing a basis strategy for pre-deaf and treat-deaf.